Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
40554605 (PubMed )
Supplement: pgen.1011755.s006.xlsx › TableS2
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
39399040 (PubMed )
Supplement: media-1.xlsx › TableS2
Analyses of 1236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations.
Raidt J et al.
The European Respiratory Journal, 2024
38871375 (PubMed )
Supplement: ERJ-01769-2023.Table_E2.xlsx › AlleleFrequenciesgnomAD_22.03.2
The Genetics of Primary Ciliary Dyskinesia in Puerto Rico.
De Jesús-Rojas W et al.
Diagnostics (basel, Switzerland), 2022
Longitudinal Lung Volume Changes by Ultrastructure and Genotype in Primary Ciliary Dyskinesia.
Pifferi M et al.
Annals of the American Thoracic Society, 2021
33760720 (PubMed )
Supplement: pifferi_data_supplement.pdf
ZMYND10--Mutation Analysis in Slavic Patients with Primary Ciliary Dyskinesia.
Kurkowiak M et al.
Plos One, 2016
ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
Zariwala MA et al.
American Journal of Human Genetics, 2013
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